42906-8
Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS
Active
Part Description
LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits.
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Source: Wikipedia, Galactose-1-phosphate uridylyltransferase
Fully-Specified Name
- Component
- Galactose 1 phosphate uridyl transferase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Long Common Name
- Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS
- Short Name
- Gal1PUT DBS-cCnc
- Display Name
- Galactose 1 phosphate uridyl transferase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Galactose 1 phosphate uridyl transferase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19799
Member of these Panels
LOINC | Long Common Name |
---|---|
54079-9 | Galactosemia newborn screening panel |
54080-7 | Galactosemia newborn screening panel (SI units) |
104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Galactosa 1 fosfato uridil transferasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Galactosa 1 fosfato uridil transferasa: |
et-EE | Estonian (Estonia) | Galaktoos-1-fosfaaturidüüli transferaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Galactose 1-phosphate uridyl transférase: |
fr-FR | French (France) | Galactose-1-phosphate uridyl transférase: |
fr-BE | French (Belgium) | Galactose 1-phosphate uridyl transférase: |
it-IT | Italian (Italy) | Galattosio 1 fosfato uridil transferasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염 우리딜 전이효소: |
nl-NL | Dutch (Netherlands) | galactose-1-fosfaaturidyltransferase: |
pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato uridil transferase: Synonyms: Hexose-1-phosphate uridyltransferase; |
ru-RU | Russian (Russian Federation) | Галактозо 1 фосфат уридил трансфераза: Synonyms: Галактозо-1-фосфат Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat üridil transferaz: |
zh-CN | Chinese (China) | 半乳糖-1-磷酸尿苷酰转移酶: Synonyms: Ⅰ GAL-1-P; |
Example Units
Unit | Source |
---|---|
nmol/h/mL | Example UCUM Units |
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